R258H (p.Arg258His) variant of RAD51C (O43502)
R258H (p.Arg258His) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic/likely pathogenic in the context of RAD51C-related cancer predisposition; Familial ovarian cancer; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R258H (p.Arg258His) variant details
- p.Arg258His
- rs267606997
- ClinGen CA168628
- cosmic curated COSV61675
- ClinVar RCV000007224
- Pathogenic/Likely pathogenic/Likely pathogenic
- RAD51C-related cancer predisposition; Familial ovarian cancer; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.50
- AlphaMissense 0.89
- MetaLR 0.45
- MetaSVM -0.10
- CADD 28.80
- PolyPhen-2 0.95
- ClinVar: Pathogenic/Likely pathogenic/Likely pathogenic, (RAD51C-related cancer predisposition; Familial ovarian cancer; H)
- EBI: Pathogenic (in FANCO)
- UniProt: Pathogenic (in FANCO)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Mutation of the RAD51C gene in a Fanconi anemia-like disorder. (PMID 20400963)
- Cited in: Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2… (PMID 24141787)